Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23074
Abstract: Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones. read more here.
Keywords: exome sequencing; identified compound; whole exome; sequencing identified ... See more keywords
Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome.
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DOI: 10.15586/aei.v50i6.529
Abstract: INTRODUCTION AND OBJECTIVES Omenn syndrome (OS) is a very rare type of severe combined immunodeficiencies manifested with erythroderma, eosinophilia, hepatosplenomegaly, lymph-adenopathy, and elevated level of serum IgE. OS is inherited with an autosomal recessive mode… read more here.
Keywords: omenn syndrome; whole exome; rag1; sequencing identified ... See more keywords